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Medication pattern and adherence to type II diabetes treatment at university hospital of Central India 印度中部大学医院的用药模式和 II 型糖尿病治疗的依从性
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233695
C. Shamkuwar, Sushant H. Meshram, N. Kumari
Background: The estimated number of diabetics in India was 62.4 million in 2011 projected to rise 101.2 million by 2030. Rational medication pattern and adherence to treatment are key components of diabetes control. Study purpose is to evaluate medication pattern and assess adherence to treatment. Methods: Prospective, observational and questionnaire-based study. Medication pattern evaluated from prescriptions and adherence assessed with Morisky medication adherence scale. Result: Total 200 prescriptions were studied. 98 (49%) and 102 (51%) were male and female respectively. Majority were above 60 years of age. Co-morbid conditions were found in 175 (87%) patients with hypertension (72%), being more common. Patients were prescribed 1216 medications. The average number of drugs per prescription was 6.20. Oral hypoglycemic drugs were 22.69%. Commonly prescribed drugs were anti-hypertensive (15.70%), drugs for coronary artery disease (10.36%), antibiotics, NSAID, PPI, vitamins and minerals (31.99%). High, medium and low adherence were observed in 47%, 38% and 15% of patients. Males (61%) adherence more than females in high adherence group. Conclusions: This study demonstrates the variability of drug utilization in diabetics. More than fifty percent patient have medium and low adherence which affects control of diabetes. Factors leading to poor adherence should be studied for better control of diabetes.
背景:据估计,2011 年印度糖尿病患者人数为 6240 万,预计到 2030 年将增至 1.012 亿。合理用药和坚持治疗是控制糖尿病的关键因素。本研究旨在评估用药模式和治疗依从性。研究方法前瞻性、观察性和问卷调查研究。根据处方评估用药模式,并使用莫里斯基用药依从性量表评估依从性。结果:共研究了 200 份处方:共研究了 200 份处方。男性和女性分别为 98 人(49%)和 102 人(51%)。大多数患者年龄在 60 岁以上。175名患者(87%)患有并发症,其中高血压患者(72%)更为常见。患者被处方了 1216 种药物。每张处方平均有 6.20 种药物。口服降糖药占 22.69%。常见的处方药有抗高血压药(15.70%)、冠心病药物(10.36%)、抗生素、非甾体抗炎药、抗高血压药、维生素和矿物质(31.99%)。47%、38%和 15%的患者依从性分别为高、中和低。在高依从性组中,男性(61%)的依从性高于女性。结论这项研究表明,糖尿病患者在药物使用方面存在差异。50%以上的患者用药依从性为中低,这影响了糖尿病的控制。应研究导致用药依从性差的因素,以便更好地控制糖尿病。
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引用次数: 0
Cecal volvulus, an uncommon cause of lower intestinal obstruction: case report and literature review 下肠梗阻的罕见病因--盲肠旋涡:病例报告和文献综述
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233730
Blaz-Zavala Rogelio Agustin, Pinto-Juarez Karen Julissa, Valencia-González Milton, Ortiz-Vargas Astrid, Corona-Flores Yanetzy Elizabet
A volvulus is defined as a loop of bowel that undergoes torsion and rotation about its axis and the supporting mesentery, resulting in manifestations of intestinal occlusion. Depending on the degree of intestinal distension, blood flow may be compromised with risk of ischemia and perforation. Cecal volvulus is caused by axial rotation of the cecum, involving the terminal ileum and ascending colon due to alterations in fixation of the cecum. We present a case report of a 32-year-old male patient with no important surgical history who presented with lower intestinal occlusion secondary to cecum volvulus associated with flanges.
肠卷被定义为肠管环绕其轴线和支撑肠系膜发生扭转和旋转,从而导致肠道闭塞的表现。根据肠道扩张的程度,血流可能会受到影响,从而有缺血和穿孔的风险。盲肠旋转是由盲肠轴向旋转引起的,由于盲肠固定的改变,会累及回肠末端和升结肠。我们报告了一例 32 岁男性患者的病例,该患者无重要手术史,因盲肠卷曲继发下肠闭塞,且伴有瓣膜。
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引用次数: 0
Prevalence, practice, and determinants of self-medication among the common public in a village of Northern Kerala, India 印度喀拉拉邦北部一个村庄普通民众自我药疗的流行程度、做法和决定因素
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233701
Narayanan Namboothiri G., Lamees K. C., Tamanna Latheef, Thasleema M. M., Thameem Muhammed N., Swathi R.
Background: Self-medication, managing health issues without professional guidance, poses significant risks to individuals and public health. Prevalence rates vary globally, often higher in low-income countries due to limited healthcare access. While self-medication offers cost-effective solutions for minor ailments, it may lead to misuse, adverse effects and financial burdens. Identifying factors driving self-medication is crucial for tailored interventions. This study aims to assess self-medication prevalence, practice, and influencing factors in a Kerala village. Methods: A community-based cross-sectional study included 212 participants (≥18 years) selected via convenient sampling. A pre-tested questionnaire collected socio-demographic data, self-medication prevalence, and influencing factors. Self-medication was defined as OTC drug use without consulting a medical graduate. Data were analyzed using SPSS 26, with chi-square tests for bivariate analysis (p≤0.05). Results: Participants (mean age: 38.13±15.56) reported 53.8% self-medication. Acute illness individuals self-medicated more (80.7% purchased from independent pharmacies). Time constraints (24.5%) and expired prescriptions (42.1%) drove self-medication. Medication choice was influenced by cost (54.3%), brand reputation (21.1%), and both (24.6%), with pharmacist recommendations (36.0%) playing a role. Self-medication was common among ages 41-60 (64.3%) and those with lower education levels (77.8% primary, 70.5% middle). Acute illness individuals self-medicated more (66%) than chronic cases (34%). Conclusions: This rural Kerala study identifies a 53.8% self-medication rate, affected by age, education, and healthcare preferences. Targeted interventions are needed for ethical self-medication and improved healthcare practices.
背景:自我药疗,即在没有专业指导的情况下处理健康问题,对个人和公众健康构成重大风险。全球的流行率各不相同,在低收入国家,由于医疗保健服务有限,流行率往往更高。虽然自我药疗可为小病提供经济有效的解决方案,但也可能导致滥用、不良影响和经济负担。确定自我药疗的驱动因素对于采取有针对性的干预措施至关重要。本研究旨在评估喀拉拉邦一个村庄的自我药疗流行率、实践和影响因素。研究方法这是一项以社区为基础的横断面研究,通过方便抽样选取了 212 名参与者(≥18 岁)。预先测试的问卷收集了社会人口学数据、自我药疗流行率和影响因素。自我药疗的定义是在未咨询医学毕业生的情况下使用非处方药物。数据使用 SPSS 26 进行分析,采用卡方检验进行二元分析(P≤0.05)。结果参与者(平均年龄:38.13±15.56)报告的自我药疗比例为 53.8%。急性病患者自我药疗较多(80.7%从独立药店购买)。时间限制(24.5%)和过期处方(42.1%)促使他们自行用药。药物选择受成本(54.3%)、品牌声誉(21.1%)和两者(24.6%)的影响,药剂师的建议(36.0%)也起到了一定作用。自我药疗在 41-60 岁人群(64.3%)和受教育程度较低人群(77.8% 小学,70.5% 中学)中很常见。急性病患者的自我药疗比例(66%)高于慢性病患者(34%)。结论喀拉拉邦农村地区的这项研究发现,自我药疗率为 53.8%,受年龄、教育程度和医疗保健偏好的影响。需要采取有针对性的干预措施,以提高自我用药的道德水平并改善医疗保健实践。
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引用次数: 0
Named cells and inclusion bodies in bacterial and viral infections associated with oral cavity 与口腔有关的细菌和病毒感染中的命名细胞和包涵体
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233742
M. S. M. Dhume, C. P. Dias
An oral pathologist can explore the world of intricate features in complicated tissues thanks to this visual speciality. Because our eyes are more accustomed to seeing normal morphology in cells and structures, we can become stuck in a state of flux when we encounter specific ill cells or bodies. Although they may appear to be deceiving, they aid the pathologist in making a diagnosis because they are pathognomonic for numerous diseases and conditions. With a focus on pathogenesis, microscopic features, and stains used to highlight features of the same, the current article is an attempt to compile various histopathological bodies seen in various diseases associated with bacterial and viral diseases associated with the oral cavity.
口腔病理学家可以凭借这一视觉特长,探索复杂组织中错综复杂的特征世界。由于我们的眼睛更习惯于看到细胞和结构的正常形态,因此在遇到特定的病变细胞或机构时,我们可能会陷入一种不确定的状态。虽然它们看似具有欺骗性,但却有助于病理学家做出诊断,因为它们是许多疾病和病症的病征。本文以发病机制、显微特征和用于突出这些特征的染色为重点,试图梳理与口腔细菌和病毒性疾病相关的各种疾病中出现的各种组织病理学体。
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引用次数: 0
Evidence-based assessment of male-only infertility: prevalence and associated risk factors in Port Harcourt metropolis, Rivers State, Nigeria 基于证据的纯男性不育症评估:尼日利亚河流州哈科特港大都市的发病率和相关风险因素
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233690
I. Elekima, Aminayanate M. Aworu, Holy Brown, Ngozi Brisibe, I. George-Opuda, H. A. Waribo, A. Ben-Chioma, E. Bartimaeus
Background: Male infertility is the condition in which a male is unable to establish pregnancy in a fertile woman over 12 months of unprotected sexual intercourse. In this study, the prevalence of male-factor infertility and some associated risk factors in Port Harcourt, Rivers State was carried out. Methods: The study design was a case-controlled randomized one, in which semen specimens were collected from case and control groups randomly amongst males visiting urology/fertility clinics by masturbation after 3 days of abstinence. A total of 276 males indicated interest to participate in study of which 193 male subjects were recruited. Results: The result showed that 20.8% were azoospermic, 27.4% were oligospermic, 23.7% were asthenozoospermic, 27.9% oligoasthenozoospermic, 15.1% teratozoospermic, 19.4% asthenoteratozoospermic, and 12.9% oligoasthenoteratospermic. Furthermore, the microbial quality of the semen assessed indicated the prevalence of scanty, moderate, and heavy growth as 12.5%, 9.3%, and 7.3% respectively. Likewise, organisms isolated and identified were Staphylococcus aureus, Escherichia coli, Klebsiella pneumoniae, and mixed growth of staphylococcus aureus, and Escherichia coli with a prevalence of 18.2%, 5.6%, 2.0%, 1.04%, and 2.6% respectively. Civil servants had the highest prevalence of 20.8% followed by artisans with 11.9%. The prevalence of primary and secondary infertility was observed to be 30.1% and 18.1% respectively. Conclusions: Male-only factor infertility is on the increase and occupations that are accompanied by prolonged sitting, sedentary work style, or working in or close to high-temperature sources as seen in civil servants and welders (artisans) were observed to be more prone to male-only factor infertility.
背景:男性不育症是指男性在与有生育能力的女性进行 12 个月的无保护性交后仍无法怀孕。本研究对河流州哈科特港男性不育症的发病率和一些相关风险因素进行了调查。研究方法研究采用病例对照随机设计,在泌尿科/不孕不育诊所就诊的男性中随机采集病例组和对照组的精液标本,在禁欲 3 天后进行手淫。共有 276 名男性表示有兴趣参与研究,其中 193 名男性受试者被招募。结果显示结果显示,20.8%为无精子症,27.4%为少精子症,23.7%为无精子症,27.9%为少精子症,15.1%为畸形精子症,19.4%为无精子症,12.9%为少精子症。此外,对精液微生物质量的评估表明,精液中微生物生长稀少、中等和大量生长的比例分别为 12.5%、9.3% 和 7.3%。同样,分离和鉴定出的微生物有金黄色葡萄球菌、大肠埃希菌、肺炎克雷伯氏菌,以及混合生长的金黄色葡萄球菌和大肠埃希菌,其流行率分别为 18.2%、5.6%、2.0%、1.04% 和 2.6%。公务员的发病率最高,为 20.8%,其次是工匠,为 11.9%。原发性和继发性不孕症的发病率分别为 30.1%和 18.1%。结论据观察,公务员和焊工(工匠)等长期久坐、久坐不动、在高温环境下工作或靠近高温源的职业更容易导致男性不育。
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引用次数: 0
Pervasiveness of metabolic syndrome and cardiovascular disease in tribal/rural population of India: a review 印度部落/农村人口中代谢综合征和心血管疾病的普遍性:综述
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233743
Aayushi Nagwanshi, T. Chakma, Shikha Nag, Kritika Singh, A. Kavishwar, Pranshi Verma, S. Shrivastava
Diseases classified as non-communicable diseases (NCDs) are those that are often caused by unhealthy behaviors rather than by infection or by contact with others. One of the main NCDs causing many fatalities is cardiovascular disease (CVD). Recent research has shown that the prevalence of metabolic syndrome (Mets) associated CVDs among tribal populations is increasing in rapid pace. In this review, we have included studies investigating the components of Mets and the relationships between Mets and CVDs. From the assessment of studies, we may predict a significant association between Mets and CVDs as a whole. Our evaluation of these studies revealed that carrying at least three Mets risk components, like hyperglycemia, obesity, dyslipidemia, and high blood pressure, significantly enhances the risk of CVDs. Undernutrition, smoking, and a low intake of fruits and vegetables in the Indian tribal population are the main risk factors for managing Mets associated CVDs. Furthermore, various studies have also shown that Mets may be influenced by genetic and environmental factors. Finally, healthy habits such as a balanced diet and frequent exercise should be introduced from a young age in individuals, to prevent Mets progression. In order to combat the Mets associated CVDs, functionally upgraded primary health centers and special IECs (Information, education and communication) programs may play a beneficial role. Furthermore, strengthening public healthcare systems and focusing on prevention, early identification, and treatment using medical and social interventions can be of immense help in managing the metabolic risk factors that can lead to CVDs.
被归类为非传染性疾病(NCDs)的疾病通常是由不健康的行为引起的,而不是由感染或与他人接触引起的。导致许多人死亡的主要非传染性疾病之一是心血管疾病(CVD)。最近的研究表明,与代谢综合征(Mets)相关的心血管疾病在部落人群中的发病率正在快速上升。在这篇综述中,我们纳入了调查代谢综合征组成部分以及代谢综合征与心血管疾病之间关系的研究。通过对这些研究的评估,我们可以预测 Mets 与心血管疾病之间整体上存在显著关联。我们对这些研究的评估结果表明,至少有三种 Mets 风险成分,如高血糖、肥胖、血脂异常和高血压,会显著增加心血管疾病的风险。印度部落人口营养不良、吸烟、水果和蔬菜摄入量低,是管理与 Mets 相关的心血管疾病的主要风险因素。此外,各种研究还表明,Mets 可能受到遗传和环境因素的影响。最后,应从年轻时就养成健康的生活习惯,如均衡饮食和经常锻炼,以预防 Mets 的发展。为了防治与梅兹病相关的心血管疾病,功能升级的初级保健中心和特殊的 IECs(信息、教育和交流)计划可能会起到有益的作用。此外,加强公共医疗保健系统,注重预防、早期识别和治疗,并采取医疗和社会干预措施,对于管理可能导致心血管疾病的代谢风险因素也大有裨益。
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引用次数: 0
Uterine arteriovenous malformations: a life threatening emergency in women 子宫动静脉畸形:危及妇女生命的急症
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233721
Bullu Priya Oraon
Arteriovenous malformation (AVM) refers to an anomalous, non-functional connection between uterine arteries and veins, potentially posing life-threatening risks due to profuse bleeding. AVM involves the growth of arterial and venous channels, fistula formation, and a combination of capillary-like vessels. This case series sheds light on our institution's experience in diagnosing and managing women with this rare gynecological condition. This retrospective study examined cases of uterine arteriovenous malformation in the Department of Obstetrics and Gynecology at RIMS, Ranchi. All three cases presented with heavy vaginal bleeding. One case had a history of medically induced abortion followed by suction and evacuation. Ultrasound color Doppler confirmed the diagnosis. One patient underwent uterine artery embolization using selective coil and foam agents, while two patients opted for hysterectomy. Two of the cases had a history of previous caesarean sections. Uterine AVM should be considered as a potential differential diagnosis in cases presenting with bleeding after abortion or curettage. The aim of reporting these cases is to highlight the common presentation of this condition and aid in its diagnosis and management.
动静脉畸形(AVM)是指子宫动脉和静脉之间的连接异常、功能失调,可能因大量出血而危及生命。动静脉畸形包括动静脉通道的生长、瘘管的形成以及毛细血管样血管的组合。本系列病例介绍了我院诊断和处理患有这种罕见妇科疾病的妇女的经验。这项回顾性研究调查了兰契 RIMS 妇产科的子宫动静脉畸形病例。所有三个病例均伴有大量阴道出血。其中一例有药物流产史,随后进行了吸宫术和排空术。彩色多普勒超声检查证实了诊断结果。一名患者接受了使用选择性线圈和泡沫剂的子宫动脉栓塞术,两名患者则选择了子宫切除术。其中两名患者曾有剖腹产史。人工流产或刮宫术后出血的病例应将子宫动静脉畸形作为潜在的鉴别诊断。报告这些病例的目的是强调这种情况的常见表现形式,并帮助进行诊断和处理。
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引用次数: 0
Perceived sources of stress and anxiety among Senegalese dental students 塞内加尔牙科学生认为的压力和焦虑来源
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233691
P. A. Lecor, Rokhaya Gadiaga, S. Dieng, Sankoung  Soumboundou
Background: Dental studies are stressful and anxiety-provoking. The aim of this study was to assess the stress and anxiety levels of dental students at Cheikh Anta Diop university in Dakar, Senegal. Methods: A descriptive cross-sectional study was conducted among 133 students. A general stress self-questionnaire (Perceived stress scale 14), another specific to dentistry studies and a final Spielberger anxiety questionnaire were distributed manually or electronically to students regularly enrolled in master’s 1 and 2 at the institute of odontology and stomatology of Cheikh Anta Diop university in Dakar. Results: A total of 121 students responded, giving a response rate of 90.97%. The average stress level was 20.8±1.08. Of these, 14 students (11.6%) had mild stress, 75.2% had moderate stress and 13.2% had high stress. The most commonly reported stress factors specific to dentistry studies were examinations and ongoing tests (67.7%), the pre-clinical transition to the clinic (70.3%), patient delays or missed appointments (83.5%), fear of making mistakes (67%, i.e., perforation, medical contraindications, etc.), the availability of equipment (70.3%), and conservative odontology and endodontics procedures (71.6%). Concerning anxiety, 113 students (93.4%) had a moderate level of anxiety and 2 students (1.6%) had a high level of anxiety. Conclusions: This study showed that stress and anxiety are frequently found among dental students. Intervention strategies based on raising awareness and promoting psychological well-being in the educational context should be adopted for these students.
背景介绍牙科专业的学习充满压力和焦虑。本研究旨在评估塞内加尔达喀尔谢赫安塔迪奥普大学牙科学生的压力和焦虑水平。研究方法对 133 名学生进行了描述性横断面研究。通过人工或电子方式向达喀尔谢赫安塔迪奥普大学牙科和口腔医学研究所硕士一、二年级的在读学生发放了一份普通压力自测问卷(感知压力量表 14)、另一份专门针对牙科研究的问卷和一份斯皮尔伯格焦虑症最终问卷。结果:共有 121 名学生作答,答卷率为 90.97%。平均压力水平为(20.8±1.08)。其中,14 名学生(11.6%)有轻度压力,75.2% 有中度压力,13.2% 有高度压力。最常报告的牙科学习压力因素是考试和正在进行的测试(67.7%)、临床前到诊所的过渡(70.3%)、病人延误或错过预约(83.5%)、害怕犯错(67%,即穿孔、医疗禁忌症等)、设备的可用性(70.3%)以及保守的牙体和牙髓治疗程序(71.6%)。在焦虑方面,113 名学生(93.4%)有中度焦虑,2 名学生(1.6%)有高度焦虑。结论这项研究表明,压力和焦虑在牙科学生中经常出现。应针对这些学生采取干预策略,提高他们的认识,促进他们在教育环境中的心理健康。
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引用次数: 0
Effect of manually assisted cough technique on cough strength in extubated patients with organophosphorus poisoning 人工辅助咳嗽技术对有机磷中毒拔管患者咳嗽强度的影响
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233696
Bhagyasha Shamkant Nandre, Sambhaji. B. Gunjal
Background: Organophosphate (OP) ingestion is one of the most common emergencies treated at poisoning control centers worldwide. In an extubated patient with OPP, the abdomen and chest muscles are affected, it also affects a person's ability to breathe on their own, rendering them dependent on a ventilator. Intubation weakens the abdominal muscles and diaphragm making it difficult to cough and clear the chest. A manual cough-assisted technique is used to enhance the cough strength, to help with the clearance of secretions it can be carried out in lying, side-lying, or sitting positions. Objectives were to find the effect of a manually assisted cough (MAC) technique on cough strength (Peak cough flow (PCF) and maximum expiratory pressure) in extubated patients with organophosphorus poisoning.  Methods: According to the selection criteria, 50 participants extubated with organophosphorus poisoning were included. A baseline assessment was done of all individuals and MAC techniques were given. outcome measures were assessed with PCF meter and PEmax manometer. MAC techniques are given for 1 week to each patient. Results: Pre and post-intervention PCF and maximal expiratory pressure (MEP) was compared and analyzed with paired t tests and which shows an extremely significant difference with p<0.0001 which indicates significant improvement in cough strength after 1 week of MAC techniques. Conclusions: This study concluded that the MAC. Technique improved the cough strength (PCF and MEP) in extubated patients with organophosphorus poisoning.
背景:摄入有机磷(OP)是全球中毒控制中心最常见的急症之一。在拔除插管的 OPP 患者中,腹部和胸部肌肉会受到影响,还会影响患者的自主呼吸能力,使其对呼吸机产生依赖。插管会削弱腹部肌肉和横膈膜的力量,从而使咳嗽和胸腔通气变得困难。人工辅助咳嗽技术可用于增强咳嗽强度,帮助清除分泌物,可在卧位、侧卧位或坐位进行。目的:研究人工辅助咳嗽(MAC)技术对有机磷中毒拔管患者咳嗽强度(咳嗽峰值流量(PCF)和最大呼气压力)的影响。 研究方法根据选择标准,共纳入 50 名有机磷中毒拔管患者。使用 PCF 计和 PEmax 压力计对结果进行评估。为每位患者提供为期一周的 MAC 技术。结果:使用配对 t 检验对干预前后的 PCF 和最大呼气压力(MEP)进行了比较和分析,结果显示,P<0.0001 的差异非常显著,这表明在使用 MAC 技术 1 周后,咳嗽强度有了明显改善。结论:本研究得出结论,MAC.技术改善了有机磷中毒拔管患者的咳嗽强度(PCF 和 MEP)。
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引用次数: 0
An unusual coalition of medullary nephrocalcinosis with a novel genotypic variant of Alport syndrome type-1 髓样肾钙化症与阿尔波特综合征 1 型新型基因型变异的不寻常合并症
Pub Date : 2023-11-29 DOI: 10.18203/2320-6012.ijrms20233726
Poonam Pradhan, Aritra Kapat, Asok K. Mandal, Ashok K. Bala
Alport’s syndrome is a type of inherited disorder of the basement membrane characterized by a spectrum of phenotypes ranging from progressive renal injury to varied extrarenal manifestations comprising auditory and ocular abnormalities. Here in, we present a 3-year-old child born out of nonconsanguineous marriage who presented with fever, intermittent microscopic haematuria, and recurrent gross haematuria, proteinuria with normal auditory brainstem response and ocular slit lamp examination findings. Renal biopsy yielded normal light microscopy and immunofluorescence study whereas minimal changes in the glomerular basement membrane (GBM) collagen were detected on electron microscopy, suggesting possibilities of Alport’s syndrome. Ultrasonographic renal imaging yielded the presence of bilateral medullary nephrocalcinosis. Angiotensin converting enzyme inhibitors along with angiotensin receptor blockers were used to curb the disease progression. A final clinical exome sequencing corroborated the phenotype with a diagnosis of Alport’s syndrome type-1 linked to a novel pathogenic variant c.1892dup (p.Gly632ArgfsTer2) showing hemizygous single base pair insertion/duplication in COL4A5 gene. To the best of our knowledge, this unusual association of Alport’s syndrome with medullary nephrocalcinosis has not been reported worldwide in any previous medical literature making this report a primi one.
阿尔波特氏综合征是一种遗传性基底膜疾病,其特征是一系列表型,从进行性肾损伤到各种肾外表现,包括听觉和视觉异常。在这里,我们介绍了一名非近亲结婚的 3 岁患儿,该患儿出现发热、间歇性显微镜下血尿、复发性毛细血尿和蛋白尿,听觉脑干反应和眼裂隙灯检查结果正常。肾活检的光镜和免疫荧光检查结果正常,而电子显微镜检查发现肾小球基底膜(GBM)胶原蛋白发生了微小变化,提示可能患有阿尔波特综合征。肾脏超声成像显示存在双侧髓质肾钙化。血管紧张素转换酶抑制剂和血管紧张素受体阻滞剂被用于遏制疾病进展。最后的临床外显子组测序证实了这一表型,诊断为阿尔波特综合征1型,与COL4A5基因中的一个新型致病变体c.1892dup(p.Gly632ArgfsTer2)半杂合单碱基对插入/重复有关。据我们所知,阿尔波特氏综合征与髓质肾硬化症之间的这种不寻常关联在世界范围内的任何医学文献中都没有报道过,因此本报告是一份初步报告。
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引用次数: 0
期刊
International Journal of Research in Medical Sciences
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